Clinical characteristics and genotype-phenotype correlations of 130 Chinese children in a high-homogeneity single-center cohort with 5α-reductase 2 deficiency.

Lijun Fan Yanning SongMichel PolakLele LiXiaoya RenBeibei ZhangDi WuChunxiu Gong

Published in: Molecular genetics & genomic medicine (2020)

T/DHT does not predict phenotype severity. The most prevalent SRD5A2 variant in Han Chinese is p.R227Q, which is associated with milder phenotypes and greater phenotypic variability. SRD5A2 variants may significantly influence phenotypic variation.

Keyphrases

young adults
copy number
resting state
replacement therapy
gene expression
functional connectivity
smoking cessation